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Pleuropulmonary blastoma: A report on 350 central pathology–confirmed pleuropulmonary blastoma cases by the I nternational P leuropulmonary B lastoma R egistry
Author(s) -
Messinger Yoav H.,
Stewart Douglas R.,
Priest John R.,
Williams Gretchen M.,
Harris Anne K.,
Schultz Kris Ann P.,
Yang Jiandong,
Doros Leslie,
Rosenberg Philip S.,
Hill D. Ashley,
Dehner Louis P.
Publication year - 2015
Publication title -
cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.052
H-Index - 304
eISSN - 1097-0142
pISSN - 0008-543X
DOI - 10.1002/cncr.29032
Subject(s) - medicine , sanger sequencing , germline , gastroenterology , single center , pulmonary blastoma , wild type , pathology , mutation , biology , genetics , lung , gene , mutant
BACKGROUND Pleuropulmonary blastoma (PPB) has 3 subtypes on a tumor progression pathway ranging from type I (cystic) to type II (cystic/solid) and type III (completely solid). A germline mutation in DICER1 is the genetic cause in the majority of PPB cases. METHODS Patients confirmed to have PPB by central pathology review were included, and their clinical characteristics and outcomes were reported. Germline DICER1 mutations were sought with Sanger sequencing. RESULTS There were 435 cases, and a central review confirmed 350 cases to be PPB; 85 cases (20%) were another entity. Thirty‐three percent of the 350 PPB cases were type I or type I regressed (type Ir), 35% were type II, and 32% were type III or type II/III. The median ages at diagnosis for type I, type II, and type III patients were 8, 35, and 41 months, respectively. The 5‐year overall survival (OS) rate for type I/Ir patients was 91%; all deaths in this group were due to progression to type II or III. OS was significantly better for type II versus type III ( P = .0061); the 5‐year OS rates were 71% and 53%, respectively. Disease‐free survival (DFS) was also significantly better for type II versus type III ( P = .0002); the 5‐year DFS rates were 59% and 37%, respectively. The PPB type was the strongest predictor of outcome. Metastatic disease at the diagnosis of types II and III was also an independent unfavorable prognostic factor. Sixty‐six percent of the 97 patients tested had a heterozygous germline DICER1 mutation. In this subset, the DICER1 germline mutation status was not related to the outcome. CONCLUSIONS Cystic type I/Ir PPB has a better prognosis than type II, and type II has a better outcome than type III. Surveillance of DICER1 carriers may allow the earlier detection of cystic PPB before its progression to type II or III PPB and thereby improve outcomes. Cancer 2015;121:276–85 . © 2014 American Cancer Society .